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Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Bello L, D'Angelo G, Villa M, Fusto A, Vianello S, Merlo B, Sabbatini D, Barp A, Gandossini S, Magri F, Comi GP, Pedemonte M, Tacchetti P, Lanzillotta V, Trucco F, D'Amico A, Bertini E, Astrea G, Politano L, Masson R, Baranello G, Albamonte E, De Mattia E, Rao F, Sansone VA, Previtali S, Messina S, Vita GL, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Vianello A, Bruno C, Hoffman EP, Morgenroth L, Gordish-Dressman H, McDonald CM; CINRG-DNHS Investigators; Pegoraro E. Bello L, et al. Ann Clin Transl Neurol. 2020 May;7(5):786-798. doi: 10.1002/acn3.51046. Epub 2020 Apr 28. Ann Clin Transl Neurol. 2020. PMID: 32343055 Free PMC article.
Genetic modifiers of upper limb function in Duchenne muscular dystrophy.
Sabbatini D, Fusto A, Vianello S, Villa M, Janik J, D'Angelo G, Diella E, Magri F, Comi GP, Panicucci C, Bruno C, D'Amico A, Bertini E, Astrea G, Battini R, Politano L, Masson R, Baranello G, Previtali SC, Messina S, Vita G, Berardinelli A, Mongini T, Pini A, Pane M, Mercuri E, Hoffman EP, Morgenroth L, Gordish-Dressman H, Duong T, McDonald CM, Bello L, Pegoraro E. Sabbatini D, et al. J Neurol. 2022 Sep;269(9):4884-4894. doi: 10.1007/s00415-022-11133-8. Epub 2022 May 5. J Neurol. 2022. PMID: 35513612 Free PMC article.
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP; CINRG Investigators; Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, Aartsma-Rus A. Spitali P, et al. Eur J Hum Genet. 2020 Jun;28(6):815-825. doi: 10.1038/s41431-019-0563-6. Epub 2020 Jan 2. Eur J Hum Genet. 2020. PMID: 31896777 Free PMC article.